rs672601343
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs672601343(-;-) |
Make rs672601343(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 31116869 |
Gene | CDSN, PSORS1C1 |
is a | snp |
is | mentioned by |
dbSNP | rs672601343 |
dbSNP (classic) | rs672601343 |
ClinGen | rs672601343 |
ebi | rs672601343 |
HLI | rs672601343 |
Exac | rs672601343 |
Gnomad | rs672601343 |
Varsome | rs672601343 |
LitVar | rs672601343 |
Map | rs672601343 |
PheGenI | rs672601343 |
Biobank | rs672601343 |
1000 genomes | rs672601343 |
hgdp | rs672601343 |
ensembl | rs672601343 |
geneview | rs672601343 |
scholar | rs672601343 |
rs672601343 | |
pharmgkb | rs672601343 |
gwascentral | rs672601343 |
openSNP | rs672601343 |
23andMe | rs672601343 |
SNPshot | rs672601343 |
SNPdbe | rs672601343 |
MSV3d | rs672601343 |
GWAS Ctlg | rs672601343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601343(-;-) |
Alt | rs672601343(-;-) |
Reference | Rs672601343(G;G) |
Significance | Pathogenic |
Disease | Peeling skin syndrome |
Variation | info |
Gene | CDSN PSORS1C1 |
CLNDBN | Peeling skin syndrome |
Reversed | 1 |
HGVS | NC_000006.11:g.31084646delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144907.4, |